Submissions for variant NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)

gnomAD frequency: 0.00014  dbSNP: rs563219502

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182637	SCV000235010	benign	not specified	2014-10-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000253966	SCV000318983	likely benign	Cardiovascular phenotype	2015-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517784	SCV000760698	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-12-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179308	SCV001343939	likely benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000182637	SCV004028840	likely benign	not specified	2023-07-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996734	SCV004823331	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing